M20T (p.Met20Thr) variant of BAX (Apoptosis regulator BAX)
M20T (p.Met20Thr) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
M20T (p.Met20Thr) variant details
- p.Met20Thr
- gnomAD 19-48955572-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.23
- MetaLR 0.14
- MetaSVM -0.95
- CADD 25.70
- PolyPhen-2 0.84
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available